Синдром Пендреда

Относится к группе синдромальных форм тугоухости. Причиной является мутация в гене SLC26A4. Типичны: нейросенсорная тугоухость, диффузное увеличение щитовидной железы. Возможны вестибулярные нарушения.

Узнать больше: https://ghr.nlm.nih.gov/condition/pendred-syndrome

Число исследованных генов: 1

Число исследованных мутаций: 35

Были исследованы мутации в следующих генах:

Мутации которые не были обнаружены:

Мутация Тип Частота SNP
SLC26A4:c.765+2T>C splice_donor_variant rs397516432
SLC26A4:c.85G>C missense_variant 0.000050 rs111033205
SLC26A4:c.-5028C>T splice_donor_variant 0.000065 rs111033312
SLC26A4:c.716T>A missense_variant 0.000220 rs111033256
SLC26A4:c.1588T>C missense_variant 0.000010 rs111033254
SLC26A4:c.554G>C missense_variant 0.000155 rs542620119
SLC26A4:c.2215C>T nonsense 0.000010 rs727503431
SLC26A4:c.2162C>T missense_variant 0.000060 rs121908363
SLC26A4:c.2168A>G missense_variant 0.000260 rs121908362
SLC26A4:c.412G>T missense_variant 0.000155 rs111033199
SLC26A4:c.68C>A nonsense rs397516430
SLC26A4:c.707T>C missense_variant 0.000525 rs80338848
SLC26A4:c.1225C>T missense_variant 0.000115 rs147952620
SLC26A4:c.1198delT frameshift_variant rs397516413
SLC26A4:c.1001+1G>T splice_donor_variant rs80338849
SLC26A4:c.1541A>G missense_variant 0.000070 rs111033316
SLC26A4:c.626G>T missense_variant 0.000375 rs111033303
SLC26A4:c.919-2A>G splice_acceptor_variant 0.000310 rs111033313
SLC26A4:c.1001G>T missense_variant 0.000010 rs146281367
SLC26A4:c.1001+1G>A splice_donor_variant 0.000258 rs80338849
SLC26A4:c.1334T>G missense_variant 0.000145 rs111033307
SLC26A4:c.1336C>T nonsense 0.000032 rs397516416
SLC26A4:c.-1634A>C splice_donor_variant rs397516418
SLC26A4:c.164+2T>C splice_donor_variant rs397516420
SLC26A4:c.1284_1286delTGC 0.000032 rs111033306
SLC26A4:c.294_298delCACGC frameshift_variant rs111033241
SLC26A4:c.2027T>A missense_variant rs111033318
SLC26A4:c.-2956C>T splice_donor_variant rs876657722
SLC26A4:c.-1318C>G splice_acceptor_variant rs111033311
SLC26A4:c.1246A>C missense_variant 0.000205 rs28939086
SLC26A4:c.1226G>A missense_variant 0.000120 rs111033305
SLC26A4:c.2089+1G>A splice_donor_variant 0.000020 rs727503430
SLC26A4:c.1229C>T missense_variant 0.000197 rs111033220
SLC26A4:c.1489G>A missense_variant 0.000030 rs111033308
SLC26A4:c.170C>G nonsense rs111033200

Редкие мутации, которые могут также приводить к заболеванию, но не были исследованы в ходе данного теста:

Мутация Тип Частота SNP
SLC26A4:c.2228T>A nonsense rs1057517303
SLC26A4:c.84C>A missense_variant 0.000200 rs539699299
SLC26A4:c.2319+1G>A splice_donor_variant 0.000210 rs542079779
SLC26A4:c.1595G>T missense_variant rs1057516243
SLC26A4:c.55delA frameshift_variant rs1057516634
SLC26A4:c.1181_1183delTCT rs1057516508
SLC26A4:c.416-1G>A splice_acceptor_variant rs1057516988
SLC26A4:c.269C>T missense_variant 0.000010 rs370588279
SLC26A4:c.249G>A nonsense rs1057516658
SLC26A4:c.1173C>A missense_variant rs1057517042
SLC26A4:c.281C>T missense_variant rs1057516953
SLC26A4:c.-2961_-2950delACTCACAACTGA rs1057516535
SLC26A4:c.3G>C missense_variant rs786204426
SLC26A4:c.619C>T nonsense rs1057516678
SLC26A4:c.1160C>T missense_variant 0.000020 rs777333979
SLC26A4:c.2127delT frameshift_variant rs786204523
SLC26A4:c.-1397C>G splice_donor_variant 0.000065 rs376653349
SLC26A4:c.1919G>A nonsense rs786204502
SLC26A4:c.858_865delGGAATTAA frameshift_variant rs1057517246
SLC26A4:c.279delT frameshift_variant rs786204421
SLC26A4:c.365dupT frameshift_variant rs786204730|rs1064797340
SLC26A4:c.1520delT frameshift_variant rs786204601
SLC26A4:c.600+2T>A splice_donor_variant rs1057516881
SLC26A4:c.1079C>T missense_variant rs786204474
SLC26A4:c.890delC frameshift_variant rs786204600
SLC26A4:c.-1536C>A splice_acceptor_variant rs1057517298
SLC26A4:c.916dupG frameshift_variant rs1057516303
SLC26A4:c.918+2T>C splice_donor_variant rs912147281|rs1057516239
SLC26A4:c.164+1delG splice_donor_variant rs786204504
SLC26A4:c.1586T>G missense_variant rs786204739
SLC26A4:c.2086C>T nonsense 0.000020 rs752807925
SLC26A4:c.235C>T nonsense rs786204581
SLC26A4:c.1975G>C missense_variant 0.000105 rs200455203
SLC26A4:c.142G>T nonsense rs201636911
SLC26A4:c.304+2T>C splice_donor_variant 0.000010 rs746238617
SLC26A4:c.1547dupC frameshift_variant rs786204450
SLC26A4:c.2067delT frameshift_variant rs1057516796
SLC26A4:c.1966delC frameshift_variant rs1057516636
SLC26A4:c.1920G>A nonsense rs368119540
SLC26A4:c.1949T>A missense_variant rs1057517161
SLC26A4:c.165-2A>G splice_acceptor_variant rs786204458
SLC26A4:c.1238delA frameshift_variant rs1057516354
SLC26A4:c.1238A>G missense_variant 0.000055 rs142498437
SLC26A4:c.218-18C>T splice_donor_variant rs1057517000
SLC26A4:c.218-18C>A splice_donor_variant rs1057517000
SLC26A4:c.-2847T>C splice_acceptor_variant rs1057516717